Variant report

Variant	esv3351676
Chromosome Location	chr8:47293047-47294686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371104084	chr8:47293047-47293048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs373721235	chr8:47293065-47293066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs367710878	chr8:47293071-47293072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs151104003	chr8:47293072-47293073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs552796811	chr8:47293080-47293081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557979870	chr8:47293092-47293093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs577847589	chr8:47293119-47293120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs577915000	chr8:47293126-47293127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs113458547	chr8:47293143-47293144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs141049362	chr8:47293147-47293148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs573523324	chr8:47293171-47293172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs150237041	chr8:47293196-47293197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs563614498	chr8:47293204-47293205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs560890815	chr8:47293206-47293207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs529914189	chr8:47293221-47293222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs562200223	chr8:47293238-47293239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs540354144	chr8:47293255-47293256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs529242431	chr8:47293263-47293264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs72640283	chr8:47293267-47293268	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181812433	chr8:47293268-47293269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs186414578	chr8:47293279-47293280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs566872039	chr8:47293280-47293281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs192370789	chr8:47293284-47293285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs201758976	chr8:47293285-47293286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs559352497	chr8:47293308-47293309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs181571406	chr8:47293310-47293311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs538132684	chr8:47293329-47293330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs532365070	chr8:47293330-47293331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs13274607	chr8:47293347-47293348	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577884234	chr8:47293348-47293349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs368769456	chr8:47293418-47293419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs533891046	chr8:47293422-47293423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs34798372	chr8:47293441-47293442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs553864726	chr8:47293451-47293452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs573588538	chr8:47293477-47293478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs76954897	chr8:47293494-47293495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs562497523	chr8:47293504-47293505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs575881383	chr8:47293505-47293506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs375735327	chr8:47293516-47293517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs544479702	chr8:47293518-47293519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs138888214	chr8:47293551-47293552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs140594916	chr8:47293577-47293578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs552191956	chr8:47293581-47293582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs546697118	chr8:47293603-47293604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs560337927	chr8:47293630-47293631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs529384589	chr8:47293663-47293664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs57654913	chr8:47293665-47293666	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs569213280	chr8:47293669-47293670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs186989232	chr8:47293687-47293688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs531867101	chr8:47293714-47293715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	20841430	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47286200-47302000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:47291200-47297200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:47292200-47294200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
4	chr8:47292600-47297400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:47294600-47294800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin

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